Canonical Allele Identifier: CA691028971

Gene: LEMD3

Linked Data

• dbSNP Id: rs1300555496
• gnomAD v3: 12-65239979-AAAG-A
• gnomAD v4: 12-65239979-AAAG-A
• MyVariant Identifiers: chr12:g.65633760_65633762del (hg19) ; chr12:g.65239980_65239982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65239984_65239986del , CM000674.2:g.65239984_65239986del	GRCh38
NC_000012.11:g.65633764_65633766del , CM000674.1:g.65633764_65633766del	GRCh37
NC_000012.10:g.63920031_63920033del	NCBI36
NG_016210.1:g.75414_75416del
NG_016210.2:g.75414_75416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000308330.3:c.1977_1979del MANE Select	ENSP00000308369.2:p.Glu660del
ENST00000308330.2:c.1977_1979del	ENSP00000308369.2:p.Glu660del
NM_001167614.1:c.1974_1976del	NP_001161086.1:p.Glu659del
NM_014319.4:c.1977_1979del	NP_055134.2:p.Glu660del
NM_014319.5:c.1977_1979del MANE Select	NP_055134.2:p.Glu660del
NM_001167614.2:c.1974_1976del	NP_001161086.1:p.Glu659del